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ALDH2 Polymorphism

Meaning

ALDH2 Polymorphism refers to a common genetic variation, or single-nucleotide polymorphism, occurring within the gene that encodes Aldehyde Dehydrogenase 2 (ALDH2), a critical enzyme in the metabolic detoxification pathway of alcohol. This specific variant, often designated ALDH22, results in a significantly less active or entirely non-functional enzyme, leading to an impaired capacity to metabolize acetaldehyde. This physiological inefficiency is clinically relevant as acetaldehyde is a highly toxic and carcinogenic byproduct of ethanol breakdown, impacting numerous biological systems, including those sensitive to oxidative stress and hormonal signaling.